ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA263804
Gene: SLC7A7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56362
ClinVar RCV Id:
RCV000049775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119578.1:p.Ser489Pro
CA263801
NM_001126106.4:c.1465T>C